The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
The NF1 gene in tumor syndromes and melanoma
Open accessAbstract
Activation of the RAS/MAPK pathway is critical in melanoma. Melanoma can be grouped into four molecular subtypes based on their main genetic driver: BRAF-mutant, NRAS-mutant, NF1-mutant, and triple wild-type tumors. The NF1 protein, neurofibromin 1, negatively regulates RAS proteins through GTPase activity. Germline mutations in NF1 cause neurofibromatosis type I, a common genetic tumor syndrome caused by dysregulation of the RAS/MAPK pathway, ie, RASopathy. Melanomas with NF1 mutations typically occur on chronically sun-exposed skin or in older individuals, show a high mutation burden, and are wild-type for BRAF and NRAS. Additionally, NF1 mutations characterize certain clinicopathologic melanoma subtypes, specifically desmoplastic melanoma. This review discusses the current knowledge of the NF1 gene and neurofibromin 1 in neurofibromatosis type I and in melanoma.
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Song, W.-M., Agrawal, P., Von Itter, R., Fontanals-Cirera, B., Wang, M., Zhou, X., Mahal, L. K., Hernando, E., & Zhang, B. (2021) · Nature Communications · doi:10.1038/s41467-021-21457-0 · Cited by 62
Goh, C. J. H., Wong, J. H., El Farran, C., Tan, B. X., Coffill, C. R., Loh, Y.-H., Lane, D., & Arumugam, P. (2021) · G3 Genes|Genomes|Genetics · doi:10.1093/g3journal/jkaa069 · Cited by 20
Metadata
- Authors
- Kiuru, M., & Busam, K. J.
- Venue
- Laboratory Investigation
- Publisher
- Elsevier BV
- Published
- 2017-02
- Volume
- 97
- Issue
- 2
- Pages
- 146-157
- ISSN
- 0023-6837 (ISSN-L)
- OpenAlex
- W2568302777
- Cited by
- 217
- References
- 14
- FWCI
- 11.39
- Type
- journal article
- Language
- en
- Open access
- bronze
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